ClinVar Miner

Submissions for variant NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer)

dbSNP: rs2153703273
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002253063 SCV002523174 uncertain significance NAV2-related neurodevelopmental condition 2018-02-06 criteria provided, single submitter clinical testing This individual has been published in PMID: 35218524.

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